ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
TAF13 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10 | 43 | |
GNAI3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
40 | 66 | |
MOV10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
39 | 61 | |
NOTCH2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1475 | 1498 | |
ADAM30 | - | - |
GRCh38 GRCh37 |
31 | 51 | |
ADORA3 | - | - |
GRCh38 GRCh37 |
- | 25 | |
AHCYL1 | - | - |
GRCh38 GRCh37 |
5 | 26 | |
AKNAD1 | - | - | - |
GRCh38 GRCh37 |
46 | 75 |
ALX3 | - | - |
GRCh38 GRCh37 |
57 | 76 | |
AMIGO1 | - | - |
GRCh38 GRCh37 |
14 | 33 |
There are 555 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 13, 2012 | RCV000142953.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023